Canonical Allele Identifier: CA432421828
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146555_10146556insA , CM000665.2:g.10146555_10146556insA GRCh38
NC_000003.11:g.10188239_10188240insA , CM000665.1:g.10188239_10188240insA GRCh37
NC_000003.10:g.10163239_10163240insA NCBI36
NG_008212.3:g.9921_9922insA , LRG_322:g.9921_9922insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*59_*60insA ENSP00000512434.1:n.*59_*60insA
ENST00000696143.1:c.600-3232_600-3231insA ENSP00000512435.1:n.600-3232_600-3231insA
ENST00000696153.1:c.382_383insA ENSP00000512444.1:p.Leu128HisfsTer4
ENST00000256474.3:c.382_383insA MANE Select ENSP00000256474.3:p.Leu128HisfsTer4
ENST00000256474.2:c.382_383insA ENSP00000256474.2:p.Leu128HisfsTer4
ENST00000345392.2:c.341-3232_341-3231insA ENSP00000344757.2:n.341-3232_341-3231insA
ENST00000477538.1:n.518_519insA
NM_000551.3:c.382_383insA , LRG_322t1:c.382_383insA NP_000542.1:p.Leu128HisfsTer4
NM_198156.2:c.341-3232_341-3231insA NP_937799.1:n.341-3232_341-3231insA
XM_011534078.1:c.*59_*60insA XP_011532380.1:n.*59_*60insA
NM_001354723.1:c.*18-3232_*18-3231insA NP_001341652.1:n.*18-3232_*18-3231insA
NM_000551.4:c.382_383insA MANE Select NP_000542.1:p.Leu128HisfsTer4
NM_001354723.2:c.*18-3232_*18-3231insA NP_001341652.1:n.*18-3232_*18-3231insA
NM_198156.3:c.341-3232_341-3231insA NP_937799.1:n.341-3232_341-3231insA